ClinVar for MedGen (Select 863556) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255225	NM_004975.4(KCNB1):c.1349T>C (p.Met450Thr)	KCNB1 (M450T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 3236683	NM_004975.4(KCNB1):c.937C>A (p.His313Asn)	KCNB1 (H313N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely pathogenic
Select item 3068456	NM_004975.4(KCNB1):c.2130del (p.Cys710fs)	KCNB1 (C710fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 26	GLikely pathogenic
Select item 3062072	NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)	KCNB1 (Q228*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 3061889	NM_004975.4(KCNB1):c.298C>T (p.Arg100Cys)	KCNB1 (R100C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 3022488	NM_004975.4(KCNB1):c.267G>A (p.Pro89=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 3017573	NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr)	KCNB1 (A169T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 3012235	NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln)	KCNB1 (R432Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 3004824	NM_004975.4(KCNB1):c.1935T>C (p.Asp645=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2994175	NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr)	KCNB1 (A3T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2986172	NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp)	KCNB1 (G473D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2985716	NM_004975.4(KCNB1):c.1485G>A (p.Leu495=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2982837	NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg)	KCNB1 (S647R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2979151	NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)	KCNB1 (G847E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2910631	NM_004975.4(KCNB1):c.456C>G (p.Ala152=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2905298	NM_004975.4(KCNB1):c.1518C>G (p.Thr506=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2891991	NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)	KCNB1 (C710S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2873547	NM_004975.4(KCNB1):c.336G>T (p.Ala112=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2867212	NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser)	KCNB1 (N468S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2866807	NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)	KCNB1 (G847A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2853048	NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2852846	NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu)	KCNB1 (G617E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2845803	NM_004975.4(KCNB1):c.666G>A (p.Gln222=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2842529	NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)	KCNB1 (T821S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2841925	NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)	KCNB1 (C831R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2841631	NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2838261	NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val)	KCNB1 (I430V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2833777	NM_004975.4(KCNB1):c.831T>C (p.Ile277=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2828184	NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp)	KCNB1 (E147D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 2824972	NM_004975.4(KCNB1):c.1946A>G (p.His649Arg)	KCNB1 (H649R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2821190	NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val)	KCNB1 (I580V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2819749	NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn)	KCNB1 (S567N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2817654	NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr)	KCNB1 (A264T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2815998	NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr)	KCNB1 (I430T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2815949	NM_004975.4(KCNB1):c.817T>C (p.Tyr273His)	KCNB1 (Y273H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2815638	NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys)	KCNB1 (M661K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2813617	NM_004975.4(KCNB1):c.12C>T (p.Gly4=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2812043	NM_004975.4(KCNB1):c.2238C>T (p.Phe746=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2811308	NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln)	KCNB1 (E330Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 2809891	NM_004975.4(KCNB1):c.1062G>A (p.Lys354=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2808681	NM_004975.4(KCNB1):c.1593C>T (p.Asp531=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2798477	NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser)	KCNB1 (A238S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2797689	NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr)	KCNB1 (A551T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2794079	NM_004975.4(KCNB1):c.603C>T (p.Leu201=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2793697	NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)	KCNB1 (A28T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2792606	NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)	KCNB1 (A849D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2791047	NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys)	KCNB1 (R11C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 2790239	NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly)	KCNB1 (E559G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2789340	NM_004975.4(KCNB1):c.2075A>G (p.His692Arg)	KCNB1 (H692R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2788268	NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly)	KCNB1 (D80G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2787192	NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp)	KCNB1 (E470D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2786732	NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)	KCNB1 (T790I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2785870	NM_004975.4(KCNB1):c.537G>T (p.Leu179=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2783230	NM_004975.4(KCNB1):c.264C>T (p.His88=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2772730	NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln)	KCNB1 (R583Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2770393	NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser)	KCNB1 (Y380S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2769577	NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2768545	NM_004975.4(KCNB1):c.183C>T (p.Arg61=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2765763	NM_004975.4(KCNB1):c.1629C>T (p.Pro543=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2763837	NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)	KCNB1 (G394E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely pathogenic
Select item 2759476	NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser)	KCNB1 (A671S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2756117	NM_004975.4(KCNB1):c.1218T>C (p.Ala406=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2753693	NM_004975.4(KCNB1):c.1080G>A (p.Lys360=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2746985	NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2746871	NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2745385	NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe)	KCNB1 (L483F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2743794	NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter)	KCNB1 (S68*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2739455	NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn)	KCNB1 (D79N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2735740	NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn)	KCNB1 (D757N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2732839	NM_004975.4(KCNB1):c.1146C>T (p.Asp382=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2726656	NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu)	KCNB1 (Q522L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2726320	NM_004975.4(KCNB1):c.108C>T (p.Asn36=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2723252	NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala)	KCNB1 (T6A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2717173	NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala)	KCNB1 (D462A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2717151	NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro)	KCNB1 (R583P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2716878	NM_004975.4(KCNB1):c.2067G>T (p.Gly689=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2714637	NM_004975.4(KCNB1):c.270C>A (p.Gly90=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2714204	NM_004975.4(KCNB1):c.789T>C (p.Asn263=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2711140	NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)	KCNB1 (A819S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2709811	NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)	KCNB1 (F351V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2709309	NM_004975.4(KCNB1):c.2103T>C (p.Ala701=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2707981	NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val)	KCNB1 (I392V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2707135	NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro)	KCNB1 (S185P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2703899	NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr)	KCNB1 (P568T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2702824	NM_004975.4(KCNB1):c.368del (p.Gly123fs)	KCNB1 (G123fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2702647	NM_004975.4(KCNB1):c.1002C>G (p.Leu334=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2700069	NM_004975.4(KCNB1):c.1839C>T (p.Pro613=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2696967	NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys)	KCNB1 (N145K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2695393	NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2693950	NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)	KCNB1 (S816Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2693876	NM_004975.4(KCNB1):c.816A>G (p.Pro272=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2691340	NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)	KCNB1 (I725V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2630112	NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser)	KCNB1 (A703S)	Single nucleotide variant (missense variant)	KCNB1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2585373	NM_004975.4(KCNB1):c.926A>G (p.Lys309Arg)	KCNB1 (K309R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2584891	NM_004975.4(KCNB1):c.31C>A (p.Arg11Ser)	KCNB1 (R11S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2584450	NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)	KCNB1 (I196S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely pathogenic
Select item 2582626	NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)	KCNB1 (L208R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely pathogenic
Select item 2580220	NM_004975.4(KCNB1):c.1020G>A (p.Met340Ile)	KCNB1 (M340I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2500047	NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)	KCNB1 (T760K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2432989	NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)	KCNB1 (A515T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance

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